YIPF6

Protein YIPF6 is a protein that in humans is encoded by the YIPF6 gene.[5][6]

YIPF6
Identifiers
AliasesYIPF6, FinGER6, Yip1 domain family member 6
External IDsOMIM: 300996 MGI: 1925179 HomoloGene: 15501 GeneCards: YIPF6
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq12-q13.1Start68,498,562 bp[1]
End68,537,282 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

286451

77929

Ensembl

ENSG00000181704

ENSMUSG00000047694

UniProt

Q96EC8

Q8BR70

RefSeq (mRNA)

NM_001195214
NM_173834

NM_207633

RefSeq (protein)

NP_001182143
NP_776195

NP_997516

Location (UCSC)Chr X: 68.5 – 68.54 MbChr X: 98.94 – 98.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

In mice, a null allele of YIPF6 has been found to cause intestinal inflammation resulting in spontaneous colitis and ileitis by impairing intestinal homeostasis. The impairment was due to defects in the formation and secretion of large secretory granules from goblet and Paneth cells.[7] Because the X-linked YIPF6 mutation resulted in spontaneous disease, it has been suggested that it may increase susceptibility to inflammatory bowel disease in humans, particularly in males.[7][8]

References

  1. GRCh38: Ensembl release 89: ENSG00000181704 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000047694 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Strausberg RL, Feingold EA, Grouse LH, et al. (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc Natl Acad Sci U S A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  6. "Entrez Gene: YIPF6 Yip1 domain family, member 6".
  7. Brandl, Katherina; Tomisato, Wataru; Li, Xiaohong; et al. (July 2012). "Yip1 domain family, member 6 (Yipf6) mutation induces spontaneous intestinal inflammation in mice". Proceedings of the National Academy of Sciences. 109 (31): 12650–12655. doi:10.1073/pnas.1210366109. PMC 3412000. PMID 22802641.
  8. Moresco, Eva Marie Y.; Brandl, Katherina (January 2013). "Linking membrane trafficking and intestinal homeostasis". Tissue Barriers. 1 (1): e23119. doi:10.4161/tisb.23119. PMC 3875636. PMID 24665373.

Further reading


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